The troponin T type 1 (skeletal, slow) muscle protein is encoded by the TNNT1 gene. The protein encoded by the TNNT1 gene is a subunit of troponin and is involved in striated muscle contraction. Mutations in the TNNT1 gene have been shown to cause nemaline myopathy that is characterized by muscle weakness and respiratory insufficiency (Johnston et al. 2000; van der Pol et al. 2014). In the brain, TNNT1 is expressed in sagittal sections of the thalamus, the Islands of Calleja and the superficial grey layer of superior colliculus. Transcripts of the TNNT1 gene have also been detected in the murine heart (Pinto et al. 2012; Manuylov et al. 2009) and in human and murine skeletal muscle (Sabry et al. 1991; Kee and Hardeman 2008; Johnston et al. 2000).
There is a need for characterized human TNNT1 promoters for gene expression, for instance in human gene therapy applications. It is particularly useful to identify small promoter elements that are sufficient to drive expression in regions of the brain, for instance in thalamus, the Islands of Calleja and the superficial grey layer of superior colliculus as well as in the heart and striated muscle. Such small promoter elements, or “mini-promoters” are particularly useful in certain applications, for instance they are more amenable to insertion into viral vectors used in gene therapy applications.
TNNT1 promoter elements and gene expression described in the art, including:    de Leeuw C N, Dyka F M, Boye S L, Laprise S, Zhou M, Chou A Y, Borretta L, McInerny S C, Banks K G, Portales-Casamar E, et al. 2014. Targeted CNS delivery using human MiniPromoters and demonstrated compatibility with adeno-associated viral vectors. Molecular Therapy Methods & Clinical Development 1: e5.    Johnston J J, Kelley R I, Crawford T O, Morton D H, Agarwala R, Koch T, Schäffer A A, Francomano C A, Biesecker L G. 2000. A novel nemaline myopathy in the Amish caused by a mutation in troponin T1. Am J Hum Genet 67: 814-821.    Kee A J, Hardeman E C. 2008. Tropomyosins in skeletal muscle diseases. Adv Exp Med Biol 644: 143-157.    Manuylov N L, Tevosian S G. 2009. Cardiac expression of Tnnt1 requires the GATA4-FOG2 transcription complex. The Scientific World JOURNAL 9: 575-587.    Lowe X R, Lu X, Marchetti F, Wyrobek A J. 2007. The expression of Troponin T1 gene is induced by ketamine in adult mouse brain. Brain Res 1174:7-17